(Q54332402)

27 May 2018

title

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. (English)

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27 May 2018

arrhythmogenic right ventricular cardiomyopathy

main subject

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author

William McKenna

9

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27 May 2018

Sharon Rae Jenkins

4

object named as

Sharon Jenkins

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27 May 2018

Krisztina Zuborne Alapi

5

object named as

Krisztina Zuborne Alapi

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27 May 2018

author name string

Giovanni Quarta

1

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27 May 2018

Petros Syrris

2

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27 May 2018

Michael Ashworth

3

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27 May 2018

John Morgan

6

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27 May 2018

Alison Muir

7

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27 May 2018

Antonios Pantazis

8

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27 May 2018

Perry M Elliott

10

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27 May 2018

publication date

23 December 2011

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27 May 2018

published in

European Heart Journal

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27 May 2018

volume

33

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27 May 2018

issue

9

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27 May 2018

page(s)

1128-1136

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27 May 2018

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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1 reference

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

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Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

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A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

21 January 2018

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

21 January 2018

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LMNA mutations in atypical Werner's syndrome

21 January 2018

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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

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Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.

21 January 2018

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Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

21 January 2018

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Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

21 January 2018

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Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2

21 January 2018

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Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

21 January 2018

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Amino acid difference formula to help explain protein evolution

21 January 2018

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A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

21 January 2018

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Genotype-phenotype correlations in laminopathies: how does fate translate?

21 January 2018

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Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

21 January 2018

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Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

21 January 2018

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A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.

21 January 2018

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Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

21 January 2018

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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

21 January 2018

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Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

21 January 2018

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Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes

21 January 2018

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Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

21 January 2018

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Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

21 January 2018

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Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43.

21 January 2018

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Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

21 January 2018

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Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

21 January 2018

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Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

21 January 2018

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De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

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Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes

21 January 2018

1 reference

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Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

21 January 2018

1 reference

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"Laminopathies": a wide spectrum of human diseases

21 January 2018

1 reference

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A-type lamin complexes and regenerative potential: a step towards understanding laminopathic diseases?

21 January 2018

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Laminopathies: multisystem dystrophy syndromes

21 January 2018

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Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

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Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations

21 January 2018

1 reference

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Dynamic complexes of A-type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of beta-catenin

21 January 2018

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21 January 2018

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Peroxisome-proliferator-activated receptor gamma suppresses Wnt/beta-catenin signalling during adipogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHR451

Primary prevention of sudden death in patients with lamin A/C gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHR451

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHR451

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHR451

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHR451

21 January 2018

Identifiers

DOI

10.1093/EURHEARTJ/EHR451

1 reference

27 May 2018

1 reference

27 May 2018